Trisomy 18 caused by an extra chromosome 18.
Infants are typically small and have many physical abnormalities and problems with internal organs.
Tests can be done before or after birth to confirm the diagnosis.
There is no treatment available for trisomy 18.
(See also Overview of Chromosomal Disorders Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one... read more .)
Chromosomes Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are structures within cells... read more 
are structures within cells that contain DNA DNA Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are structures within cells... read more and many genes. A gene is a segment of deoxyribonucleic acid (DNA) and contains the code for a specific protein that functions in one or more types of cells in the body ( see Genes and Chromosomes Genes and Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are structures within cells... read more for a discussion about genetics). Genes contain instructions that determine how the body is supposed to look and function.
An extra chromosome, making three of a kind (instead of the normal two), is called trisomy ( see also Overview of Chromosome and Gene Disorders Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one... read more ). Children who have trisomy 18 have a third chromosome 18. Trisomy 18 occurs in about 1 out of 6,000 live births. However, many affected fetuses spontaneously miscarry Miscarriage A miscarriage is the loss of a fetus before 20 weeks of pregnancy. Miscarriages may occur because of a problem in the fetus (such as a genetic disorder or birth defect) or in the woman (such... read more . The extra chromosome almost always comes from the mother. Mothers who are over age 35 are at increased risk of having a child with trisomy 18. There are more girls than boys with trisomy 18.
Symptoms of Trisomy 18
In the womb, affected fetuses are not typically very active, and there is often excess amniotic fluid and a small placenta.
Physical abnormalities
At birth, newborns are often very small because their muscles and body fat are underdeveloped. Newborns are typically limp and have a weak cry. The mouth and jaw may be small, which gives the newborn's face a pinched appearance. Other visible deformities are common, including a small head, low-set and malformed ears, a narrow pelvis, and a short breastbone (sternum). Physical abnormalities may be obvious at birth. However, some newborns have abnormalities that are not as severe.
Common Types of Clubfoot
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The hands are clenched in fists, and the index fingers often overlap the middle and ring fingers. The fingernails are underdeveloped. Skinfolds, especially over the back of the neck, are common. The big toes are shortened and frequently bend upward. Clubfeet Clubfoot and Other Foot Defects Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more 
and rocker-bottom feet are common.
Image courtesy of the Centers for Disease Control and Prevention Public Health Image Library.
Image courtesy of the Centers for Disease Control and Prevention Public Health Image Library.
Image courtesy of the Centers for Disease Control and Prevention Public Health Image Library.
Internal abnormalities
Internal organs also have defects. Severe abnormalities may be present in the heart, lungs, digestive tract, and kidneys. Boys may have undescended testes Undescended testes Undescended testes (cryptorchidism) are testes that remain in the abdomen or the groin instead of descending into the scrotum. Retractile testes (hypermobile testes) have descended into the... read more 
. Newborns may also have hernias Abdominal Wall Hernias An abdominal wall hernia is an opening or area of weakness in the abdominal wall through which abdominal contents can protrude. An abdominal wall hernia causes a noticeable bulging but little... read more 
, muscles that have separated from the abdominal wall, or both.
Diagnosis of Trisomy 18
Before birth, ultrasonography of the fetus or blood tests of the mother
Chorionic villus sampling, amniocentesis, or both
After birth, the appearance of the infant and blood tests of the infant
(See also Next-generation sequencing technologies Next-generation sequencing technologies Genetic diagnostic technologies are scientific methods that are used to understand and evaluate an organism's genes. (See also Genes and Chromosomes.) Genes are segments of deoxyribonucleic... read more .)
Before birth, trisomy 18 may be suspected based on findings detected during an ultrasound of the fetus Ultrasonography Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more . Doctors also can do a test to find deoxyribonucleic acid (DNA) from the fetus in the mother's blood and use this DNA to detect an increased risk of trisomy 18. This test is called noninvasive prenatal screening (NIPS) or cell-free fetal DNA analysis. If doctors suspect trisomy 18 based on these tests, they often confirm the diagnosis using chorionic villus sampling Chorionic Villus Sampling Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more , amniocentesis Amniocentesis Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more , or both ( see Testing for chromosome and gene abnormalities Testing for chromosome and gene abnormalities Chromosomes are structures within cells that contain a person's genes. A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one... read more ).
After birth, the infant's physical appearance may suggest the diagnosis of trisomy 18. To confirm the diagnosis of trisomy 18, the infant's chromosomes typically are analyzed using a blood test.
Prognosis for and Treatment of Trisomy 18
Support for the family
There is no specific treatment available for trisomy 18. About 50% of children die within the first week, and only 5 to 10% are still alive at 1 year of age. However, recently, people who have trisomy 18 are living longer, and there are adults with trisomy 18. These survivors are at increased risk of developing certain tumors, such as in the liver (hepatoblastoma Hepatoblastoma Primary liver cancers are cancers that originate in the liver. The most common is hepatocellular carcinoma (hepatoma). At first, liver cancer usually causes only vague symptoms (such as weight... read more ) and kidneys (Wilms tumor Wilms Tumor Wilms tumor is a specific kind of kidney cancer that occurs mainly in young children. The cause of Wilms tumor is not known, but some children may have a genetic abnormality that increases their... read more ). To help detect these tumors and other complications, doctors may recommend that children have periodic blood tests and imaging studies such as ultrasonography of the abdomen and kidneys.
Children who survive have severe developmental delay and disability. It is recommended that family members seek support.
More Information
The following are English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
Trisomy 18 Foundation: Provides advocacy, education, support, and public awareness programs and services
SOFT (Support Organization for Trisomy 18, 13, and Related Disorders): An organization providing resources, research information, and community and support services to people caring for others who have trisomy 18, 13, or another related chromosome disorder
